Aliases for TARDBP Gene
Aliases for TARDBP Gene
External Ids for TARDBP Gene
- HGNC: 11571
- Entrez Gene: 23435
- Ensembl: ENSG00000120948
- OMIM: 605078
- UniProtKB: Q13148
Previous GeneCards Identifiers for TARDBP Gene
- GC01P011033
- GC01P010916
- GC01P010682
- GC01P010782
- GC01P011006
- GC01P010224
- GC01P011072
Summaries for TARDBP Gene
-
HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. The protein encoded by this gene is a transcriptional repressor that binds to chromosomally integrated TAR DNA and represses HIV-1 transcription. In addition, this protein regulates alternate splicing of the CFTR gene. A similar pseudogene is present on chromosome 20. [provided by RefSeq, Jul 2008]
GeneCards Summary for TARDBP Gene
TARDBP (TAR DNA Binding Protein) is a Protein Coding gene. Diseases associated with TARDBP include Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia and Motor Neuron Disease. Among its related pathways are Neuroscience. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and DNA binding transcription factor activity. An important paralog of this gene is HNRNPD.
UniProtKB/Swiss-Prot for TARDBP Gene
-
DNA and RNA-binding protein which regulates transcription and splicing. Involved in the regulation of CFTR splicing. It promotes CFTR exon 9 skipping by binding to the UG repeated motifs in the polymorphic region near the 3-splice site of this exon. The resulting aberrant splicing is associated with pathological features typical of cystic fibrosis. May also be involved in microRNA biogenesis, apoptosis and cell division. Can repress HIV-1 transcription by binding to the HIV-1 long terminal repeat. Stabilizes the low molecular weight neurofilament (NFL) mRNA through a direct interaction with the 3 UTR.
Additional gene information for TARDBP Gene
- Monarch Initiative
- Search for TARDBP at DataMed
- Search for TARDBP at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TARDBP Gene
Genomics for TARDBP Gene
GeneHancer (GH) Regulatory Elements for TARDBP Gene
Promoters and enhancers for TARDBP Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around TARDBP on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the TARDBP gene promoter:
-
- HEN1
- IRF-1
- LyF-1
- c-Myb
- Tal-1
- E47
- Pbx1a
- STAT5A
- Hand1
Regulatory Element Products
Genomic Locations for TARDBP Gene
Genomic Locations for TARDBP Gene
- chr1:11,012,344-11,026,420
- (GRCh38/hg38)
- Size:
- 14,077 bases
- Orientation:
- Plus strand
- chr1:11,072,414-11,085,796
- (GRCh37/hg19)
- Size:
- 13,383 bases
- Orientation:
- Plus strand
Genomic View for TARDBP Gene
Genes around TARDBP on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1p36.22 by Entrez Gene
- 1p36.22 by HGNC
- 1p36.22 by Ensembl
TARDBP Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for TARDBP Gene
Proteins for TARDBP Gene
-
Protein details for TARDBP Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q13148-TADBP_HUMAN
- Recommended name:
- TAR DNA-binding protein 43
- Protein Accession:
- Q13148
- A4GUK4
- A4GUK5
- A4GUK6
- B2R629
- B4DJ45
- E2PU12
- Q53H27
- Q6FI92
- Q96DJ0
Protein attributes for TARDBP Gene
- Size:
- 414 amino acids
- Molecular mass:
- 44740 Da
- Quaternary structure:
-
- Homodimer. Interacts with BRDT (By similarity). Binds specifically to pyrimidine-rich motifs of TAR DNA and to single stranded TG repeated sequences. Binds to RNA, specifically to UG repeated sequences with a minimun of six contiguous repeats. Interacts with ATNX2; the interaction is RNA-dependent (PubMed:20740007). Interacts with MATR3 (PubMed:24686783). Interacts with UBQLN2 (PubMed:23541532). Interacts with HNRNPA2B1 (PubMed:19429692).
- SequenceCaution:
-
- Sequence=ABO32290.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=ABO32292.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for TARDBP Gene
Protein Expression for TARDBP Gene
Post-translational modifications for TARDBP Gene
- Hyperphosphorylated in hippocampus, neocortex, and spinal cord from individuals affected with ALS and FTLDU.
- Ubiquitinated in hippocampus, neocortex, and spinal cord from individuals affected with ALS and FTLDU.
- Cleaved to generate C-terminal fragments in hippocampus, neocortex, and spinal cord from individuals affected with ALS and FTLDU.
- Ubiquitination at posLast=181181, posLast=160160, posLast=114114, isoforms=102, and posLast=9595
- Modification sites at PhosphoSitePlus
Other Protein References for TARDBP Gene
- ENSEMBL proteins:
-
- ENSP00000479978
- ENSP00000467020
- ENSP00000484722
- ENSP00000480690
- ENSP00000479219
- ENSP00000465240
- ENSP00000486989
- ENSP00000482754
- ENSP00000482559
- ENSP00000491085
- ENSP00000432132
- ENSP00000479758
- ENSP00000492196
- ENSP00000482191
- ENSP00000480771
- ENSP00000466842
- ENSP00000481330
- ENSP00000240185
- ENSP00000477852
- ENSP00000491203
- ENSP00000481206
- ENSP00000313129
- ENSP00000404666
- ENSP00000465080
- ENSP00000465888
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for TARDBP (TDP-43/TARDBP)
- Novus Biologicals Antibodies for TARDBP
-
Abcam antibodies for TARDBP
- Invitrogen Antibodies for TARDBP
- antibodies-online: Search results for 254 available TARDBP Antibodies ranked by validation data
- Compare Top TARDBP Antibodies
-
Recommended
- 222 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 3 IHC Antibodies (anti-human)
- 2 FACS Antibodies (anti-human)
- 2 IHC (p) Antibodies (anti-human)
- 121 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 1 IHC Antibody (anti-mouse)
- 1 IHC (p) Antibody (anti-mouse)
- 91 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 1 IHC (p) Antibody (anti-rat)
- GeneTex TARDBP Antibody for TARDBP
-
Custom Antibody ServicesProSci Antibodies for TARDBP
-
Santa Cruz Biotechnology (SCBT) Antibodies for TARDBP
Protein Products
- R&D Systems Proteins and Enzymes for TARDBP (TDP-43/TARDBP)
-
OriGene Purified Proteins for TARDBP
- Search Origene for MassSpec and Protein Over-expression Lysates for TARDBP
- Origene Custom Protein Services for TARDBP
- ProSpec Recombinant Proteins for TARDBP
- Search GeneTex for Proteins for TARDBP
-
Abcam proteins for TARDBP
No data available for DME Specific Peptides for TARDBP Gene
Domains & Families for TARDBP Gene
Gene Families for TARDBP Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for TARDBP Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for TARDBP Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q13148- Domain:
-
- The RRM domains can bind to both DNA and RNA.
Function for TARDBP Gene
Molecular function for TARDBP Gene
- UniProtKB/Swiss-Prot Function:
- DNA and RNA-binding protein which regulates transcription and splicing. Involved in the regulation of CFTR splicing. It promotes CFTR exon 9 skipping by binding to the UG repeated motifs in the polymorphic region near the 3-splice site of this exon. The resulting aberrant splicing is associated with pathological features typical of cystic fibrosis. May also be involved in microRNA biogenesis, apoptosis and cell division. Can repress HIV-1 transcription by binding to the HIV-1 long terminal repeat. Stabilizes the low molecular weight neurofilament (NFL) mRNA through a direct interaction with the 3 UTR.
Phenotypes From GWAS Catalog for TARDBP Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001205 | transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific DNA binding | IEA | -- |
| GO:0003676 | nucleic acid binding | IEA | -- |
| GO:0003677 | DNA binding | IEA | -- |
| GO:0003690 | double-stranded DNA binding | IDA | 7745706 |
| GO:0003700 | DNA binding transcription factor activity | TAS | 7745706 |
Phenotypes for TARDBP Gene
- MGI mutant phenotypes for TARDBP:
-
inferred from 11 alleles
- homeostasis/metabolism phenotype
- nervous system phenotype
- behavior/neurological phenotype
- no phenotypic analysis
- mortality/aging
- cellular phenotype
- muscle phenotype
- skeleton phenotype
- embryo phenotype
- adipose tissue phenotype
- hematopoietic system phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for TARDBP:
Animal Models for TARDBP Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for TARDBP
-
CRISPR Products
-
OriGene CRISPR knockouts for TARDBP
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TARDBP
- genomics-online: gRNA clones - Search results for available TARDBP gene related products
- Applied Biological Materials CRISPR for TARDBP
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for TARDBP
- GenScript: Design CRISPR guide RNA sequences for TARDBP
miRNA for TARDBP Gene
- miRTarBase miRNAs that target TARDBP
-
- hsa-mir-186-5p (MIRT021204)
- hsa-mir-192-5p (MIRT026694)
- hsa-mir-1229-3p (MIRT036282)
- hsa-mir-93-3p (MIRT038804)
- hsa-mir-125b-5p (MIRT046010)
- hsa-mir-15b-5p (MIRT046426)
- hsa-mir-1260b (MIRT052712)
- hsa-mir-583 (MIRT178871)
- hsa-mir-1276 (MIRT178872)
- hsa-mir-4311 (MIRT178873)
- hsa-mir-7846-3p (MIRT178874)
- hsa-mir-548c-3p (MIRT264533)
- hsa-mir-4282 (MIRT264534)
- hsa-mir-1302 (MIRT331690)
- hsa-mir-4298 (MIRT331691)
- hsa-mir-8485 (MIRT437342)
- hsa-mir-513a-5p (MIRT466612)
- hsa-mir-4278 (MIRT466613)
- hsa-mir-7111-5p (MIRT466614)
- hsa-mir-6870-5p (MIRT466615)
- hsa-mir-5698 (MIRT466616)
- hsa-mir-4723-5p (MIRT466617)
- hsa-mir-6732-5p (MIRT466618)
- hsa-mir-6805-5p (MIRT466619)
- hsa-mir-6794-5p (MIRT466620)
- hsa-mir-4716-3p (MIRT466621)
- hsa-mir-27b-3p (MIRT466622)
- hsa-mir-27a-3p (MIRT466623)
- hsa-mir-4452 (MIRT574275)
- hsa-mir-183-3p (MIRT574276)
- hsa-mir-7153-3p (MIRT574277)
- hsa-mir-4778-3p (MIRT652816)
- hsa-mir-4698 (MIRT652817)
- hsa-mir-524-5p (MIRT707628)
- hsa-mir-520d-5p (MIRT707629)
- hsa-mir-3919 (MIRT707630)
- hsa-mir-3613-3p (MIRT707631)
- hsa-mir-3123 (MIRT707632)
- hsa-mir-3529-3p (MIRT707633)
- hsa-mir-8054 (MIRT707634)
- hsa-mir-548k (MIRT707635)
- hsa-mir-548av-5p (MIRT707636)
- hsa-mir-548n (MIRT707637)
- hsa-mir-1238-3p (MIRT711897)
- hsa-mir-670-3p (MIRT711898)
- hsa-mir-6881-3p (MIRT711899)
- hsa-mir-6780a-3p (MIRT711900)
- hsa-mir-7111-3p (MIRT711901)
- hsa-mir-4742-3p (MIRT711902)
- hsa-mir-877-3p (MIRT711903)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TARDBP
- Browse OriGene Inhibitory RNA Products For TARDBP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TARDBP
- genomics-online: shRNA clones - Search results for available TARDBP gene related products
Clone Products
- Sino Biological Human cDNA Clone for TARDBP
- VectorBuilder custom plasmid, inducible vectors for TARDBP
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for TARDBP
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for TARDBP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TARDBP
- genomics-online: cdna clones - Search results for available TARDBP gene related products
- orf clones - Search results for available TARDBP gene related products
- Applied Biological Materials Clones for TARDBP
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for TARDBP
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TARDBP Gene
Localization for TARDBP Gene
Subcellular locations from UniProtKB/Swiss-Prot for TARDBP Gene
- Nucleus. Note=In patients with frontotemporal lobar degeneration and amyotrophic lateral sclerosis, it is absent from the nucleus of affected neurons but it is the primary component of cytoplasmic ubiquitin-positive inclusion bodies.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 3 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| endoplasmic reticulum | 2 |
| lysosome | 2 |
| extracellular | 1 |
| golgi apparatus | 1 |
| endosome | 1 |
- Nucleoplasm (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA | 11285240 |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005726 | perichromatin fibrils | IEA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0016607 | nuclear speck | IEA | -- |
Pathways & Interactions for TARDBP Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Neuroscience | ||
Pathways by source for TARDBP Gene
1 Cell Signaling Technology pathway for TARDBP Gene
Interacting Proteins for TARDBP Gene
Selected Interacting proteins:
Q13148-TADBP_HUMAN
ENSP00000240185
for TARDBP Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for TARDBP
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001933 | negative regulation of protein phosphorylation | IMP | 18305152 |
| GO:0006351 | transcription, DNA-templated | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
| GO:0006366 | transcription by RNA polymerase II | TAS | 7745706 |
| GO:0006397 | mRNA processing | IEA | -- |
No data available for SIGNOR curated interactions for TARDBP Gene
Transcripts for TARDBP Gene
mRNA/cDNA for TARDBP Gene
- (7) REFSEQ mRNAs :
- (15) Additional mRNA sequences :
- (668) Selected AceView cDNA sequences:
- (31) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000473118 701 bps (uc057cds.1)
- ENST00000240185 5367 bps (uc001art.4)
- ENST00000639083 2269 bps
- ENST00000639599 1283 bps
- ENST00000439080 1388 bps (uc057cdu.1)
Unigene Clusters for TARDBP Gene
- TAR DNA binding protein:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for TARDBP
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TARDBP
- genomics-online: gRNA clones - Search results for available TARDBP gene related products
- Applied Biological Materials CRISPR for TARDBP
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for TARDBP
- GenScript: Design CRISPR guide RNA sequences for TARDBP
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TARDBP
- Browse OriGene Inhibitory RNA Products For TARDBP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TARDBP
- genomics-online: shRNA clones - Search results for available TARDBP gene related products
Clone Products
- Sino Biological Human cDNA Clone for TARDBP
- VectorBuilder custom plasmid, inducible vectors for TARDBP
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for TARDBP
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for TARDBP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TARDBP
- genomics-online: cdna clones - Search results for available TARDBP gene related products
- orf clones - Search results for available TARDBP gene related products
- Applied Biological Materials Clones for TARDBP
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for TARDBP Gene
This gene is overexpressed in Nasal epithelium (7.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TARDBP Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of TARDBP Gene:
TARDBPSOURCE GeneReport for Unigene cluster for TARDBP Gene:
Hs.300624mRNA Expression by UniProt/SwissProt for TARDBP Gene:
Q13148-TADBP_HUMAN
Tissue specificity:
Ubiquitously expressed. In particular, expression is high in pancreas, placenta, lung, genital tract and spleen.
Evidence on tissue expression from TISSUES for TARDBP Gene
- Nervous system(5)
- Liver(4.5)
- Kidney(3.5)
- Blood(3.3)
- Lung(3.3)
- Eye(2.7)
- Muscle(2.7)
- Intestine(2.5)
- Pancreas(2.5)
- Skin(2.4)
Phenotype-based relationships between genes and organs from Gene ORGANizer for TARDBP Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- nervous
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cerebellum
- cranial nerve
- ear
- epiglottis
- face
- head
- jaw
- larynx
- mandible
- maxilla
- mouth
- neck
- nose
- pharynx
- skull
- tongue
- vocal cord
Thorax:
- bronchus
- clavicle
- esophagus
- heart
- lung
- scapula
- trachea
Abdomen:
- biliary tract
- liver
- stomach
Limb:
- arm
- digit
- finger
- foot
- forearm
- hand
- humerus
- lower limb
- shin
- shoulder
- thigh
- toe
- upper limb
General:
- blood vessel
- peripheral nerve
- peripheral nervous system
- spinal cord
Primer Products
-
OriGene qPCR primer pairs and template standards for TARDBP
-
OriGene qPCR primer pairs for TARDBP
- genomics-online: primer clones - Search results for available TARDBP gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for TARDBP Gene
Orthologs for TARDBP Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | TARDBP 34 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | TARDBP 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | TARDBP 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Tardbp 16 34 33 |
|
||
| dog (Canis familiaris) |
Mammalia | TARDBP 34 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | TARDBP 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | TARDBP 34 33 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | tardbp 33 |
|
||
| MGC75857 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | tardbp-prov 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | tardbpl 34 |
|
OneToMany | |
| tardbp 34 33 |
|
OneToMany | |||
| wufb77f02 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.3538 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG7804 34 35 |
|
OneToMany | |
| TBPH 34 35 |
|
OneToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | F44G4.4 35 |
|
|
|
| tdp-1 34 |
|
OneToOne | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.10473 34 |
|
OneToOne | |
| Cin.3080 33 |
|
||||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.3080 33 |
|
- Species where no ortholog for TARDBP was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- lizard (Anolis carolinensis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rat (Rattus norvegicus)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for TARDBP Gene
- ENSEMBL:
- Gene Tree for TARDBP (if available)
- TreeFam:
- Gene Tree for TARDBP (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for TARDBP: view image
Paralogs for TARDBP Gene
(7) SIMAP similar genes for TARDBP Gene using alignment to 10 proteins:
- TADBP_HUMAN
- B1AKP7_HUMAN
- B4DJ45_HUMAN
- G3V162_HUMAN
- K7EJ99_HUMAN
- K7EJM5_HUMAN
- K7EL26_HUMAN
- K7EN94_HUMAN
- K7ENM9_HUMAN
- Q9H256_HUMAN
Pseudogenes.org Pseudogenes for TARDBP Gene
Variants for TARDBP Gene
| SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1033638 | benign, Amyotrophic Lateral Sclerosis, Dominant, MASP2 deficiency, Frontotemporal dementia | 11,026,660(+) | A/G | genic_downstream_transcript_variant, intron_variant | |
| rs1033751502 | uncertain-significance, Frontotemporal dementia, Amyotrophic Lateral Sclerosis, Dominant | 11,024,683(+) | C/T | 3_prime_UTR_variant, intron_variant | |
| rs11121679 | benign, Frontotemporal dementia | 11,012,634(+) | G/A | 5_prime_UTR_variant | |
| rs114897688 | likely-benign, MASP2 deficiency, Frontotemporal dementia, Amyotrophic Lateral Sclerosis, Dominant | 11,024,985(+) | A/G | 3_prime_UTR_variant, intron_variant | |
| rs115750484 | likely-benign, Frontotemporal dementia, Amyotrophic Lateral Sclerosis, Dominant | 11,026,701(+) | G/A | genic_downstream_transcript_variant, intron_variant |
Residual Variation Intolerance Score:
25.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.08;
1.78% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for TARDBP Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TARDBP Gene
Disorders for TARDBP Gene
(50) MalaCards diseases for TARDBP Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| amyotrophic lateral sclerosis 10 with or without frontotemporal dementia |
|
|
| motor neuron disease |
|
|
| frontotemporal dementia and/or amyotrophic lateral sclerosis 1 |
|
|
| amyotrophic lateral sclerosis 1 |
|
|
| lateral sclerosis |
|
|
Search TARDBP in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
TADBP_HUMAN- Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. {ECO:0000269 PubMed:18288693, ECO:0000269 PubMed:18309045, ECO:0000269 PubMed:18372902, ECO:0000269 PubMed:18396105, ECO:0000269 PubMed:18438952, ECO:0000269 PubMed:19224587, ECO:0000269 PubMed:19350673, ECO:0000269 PubMed:19655382, ECO:0000269 PubMed:19695877, ECO:0000269 PubMed:20740007, ECO:0000269 PubMed:21220647, ECO:0000269 PubMed:21418058, ECO:0000269 PubMed:22456481}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for TARDBP
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for TARDBP Gene
Publications for TARDBP Gene
- High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis. (PMID: 19224587) Corrado L … D'Alfonso S (Human mutation 2009) 3 4 22 44 58
- Cloning and characterization of a novel cellular protein, TDP-43, that binds to human immunodeficiency virus type 1 TAR DNA sequence motifs. (PMID: 7745706) Ou SH … Gaynor RB (Journal of virology 1995) 2 3 4 22 58
- Association between novel TARDBP mutations and Chinese patients with amyotrophic lateral sclerosis. (PMID: 20082726) Xiong HL … Wu ZY (BMC medical genetics 2010) 3 22 44 58
- Genetic association analysis between TDP-43 polymorphisms and Alzheimer's disease in a Japanese population. (PMID: 19851068) Shibata N … Arai H (Dementia and geriatric cognitive disorders 2009) 3 22 44 58
- Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis. (PMID: 19411082) Kamada M … Kawakami H (Journal of the neurological sciences 2009) 3 22 44 58
Products for TARDBP Gene
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Sources for TARDBP Gene
- (1) GeneCards
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